UBE2S ubiquitin conjugating enzyme E2 S

Information
Symbol
UBE2S
Type
protein-coding
Description
ubiquitin conjugating enzyme E2 S
Entrez Gene ID
27338
Genome
hg19
Position
chr19:55,911,113-55,919,156
Genome
hg38
Position
chr19:55,399,745-55,407,788
MIM
610309 OMIM
HGNC
HGNC:17895 HGNC
Ensembl
ENSG00000108106 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 6
Uncertain significance 0 38
Ranking
ClinVar
0
0
2
52
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM E2-EPF
SYNONYM E2EPF
SYNONYM EPF5
MIM 610309 OMIM
HGNC HGNC:17895 HGNC
Ensembl ENSG00000108106 Ensembl
AllianceGenome HGNC:17895
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000589978.1 hg38 chr19 55,401,714 55,407,771 6,058
ENST00000264552.14 hg38 chr19 55,399,745 55,407,788 8,044
ENST00000264552.14 hg19 chr19 55,911,113 55,919,156 8,044
ENST00000589978.1 hg19 chr19 55,913,082 55,919,139 6,058
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